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特应性皮炎表型和严重程度的预测因素:血清免疫球蛋白和丝聚合蛋白基因突变R501X的作用

Predictors of atopic dermatitis phenotypes and severity: roles of serum immunoglobulins and filaggrin gene mutation R501X.

作者信息

Ercan H, Ispir T, Kirac D, Baris S, Ozen A, Oztezcan S, Cengizlier M R

机构信息

Pediatric Allergy and Asthma Unit, Yeditepe University School of Medicine, Istanbul, Turkey.

出版信息

Allergol Immunopathol (Madr). 2013 Mar-Apr;41(2):86-93. doi: 10.1016/j.aller.2012.03.004. Epub 2012 Sep 16.

DOI:10.1016/j.aller.2012.03.004
PMID:22989708
Abstract

BACKGROUND

Atopic dermatitis (AD), the most common chronic relapsing skin condition of infancy and childhood, is a complex multifactorial disease, which arises from the interaction between strong genetic and environmental factors.

OBJECTIVE

To investigate the roles of several factors on the severity of AD including FLG R501X gene mutation, serum immunoglobulin (Ig) levels, atopy and accompanying allergic disorders.

METHOD

Children were genotyped for the mutation in FLG R501X gene. Serum levels of major Ig isotypes, atopy and accompanying allergic disorders were assessed.

RESULTS

Study group consisted of 49 patients (M: 26, F: 23) with a mean age of 4.9±3.6 years and control group consisted of 50 children (M: 30, F: 20) with a mean age of 3.8±2.8 years. Genotyping of R501X mutation revealed risk alleles in none of the children in study group or control group. IgG z-scores were significantly higher in patients with AD compared to controls (-0.97±1.13 vs 1.48±1.02, p=0.026). There was a positive trend in IgG z-scores and a negative trend in IgA z-scores across the severity of AD. History of recurrent infections was significantly associated with asthma and/or AR (47.8% in patients with asthma/AR vs 3.8% in those without). Children with low IgG or IgA levels presented at an earlier age with lower rates of atopy and mild type AD.

CONCLUSION

In a sample of Turkish children, FLG R501X genotyping revealed no risk alleles in variable severities of AD or healthy controls. Our data suggest that IgG and IgA levels might have a role in phenotypic features of AD in terms of severity and atopic sensitisation.

摘要

背景

特应性皮炎(AD)是婴幼儿和儿童期最常见的慢性复发性皮肤病,是一种复杂的多因素疾病,由强大的遗传和环境因素相互作用引起。

目的

研究包括FLG R501X基因突变、血清免疫球蛋白(Ig)水平、特应性及伴发的过敏性疾病等多种因素对AD严重程度的影响。

方法

对儿童进行FLG R501X基因突变的基因分型。评估主要Ig同种型的血清水平、特应性及伴发的过敏性疾病。

结果

研究组由49例患者(男26例,女23例)组成,平均年龄4.9±3.6岁;对照组由50名儿童(男30例,女20例)组成,平均年龄3.8±2.8岁。R501X突变基因分型显示,研究组和对照组儿童均未发现风险等位基因。与对照组相比,AD患者的IgG z评分显著更高(-0.97±1.13对1.48±1.02,p=0.026)。在AD的严重程度方面,IgG z评分呈上升趋势,IgA z评分呈下降趋势。反复感染史与哮喘和/或变应性鼻炎显著相关(哮喘/变应性鼻炎患者中为47.8%,无哮喘/变应性鼻炎患者中为3.8%)。IgG或IgA水平低的儿童发病年龄较早,特应性发生率较低,AD病情较轻。

结论

在一组土耳其儿童样本中,FLG R501X基因分型显示,不同严重程度的AD患者或健康对照中均未发现风险等位基因。我们的数据表明,IgG和IgA水平可能在AD的严重程度和特应性致敏方面的表型特征中起作用。

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